ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.2499+1G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford RCV004720414 SCV004809150 pathogenic MEGF8-related Carpenter syndrome no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.